David S. Rosenblatt, MD
Primary Axis:
Medical Genetics and Genomics
Email:
Email contact form Research Focus:
Dr. Rosenblatt directs one of only two referral laboratories in the world for patients suspected of having an inborn error of vitamin B12 or folate metabolism. As a result of the study of cells from these patients, he has been able to define novel steps in intracellular vitamin B12 metabolism and to identify three complementation groups (cblE, cblF, cblG). Since 2000, he and his collaborators have identified the genes for 5 disorders: cblA (MMAA), cblB (MMAB), cblC (MMACHC), cblD (MMADHC), and cblF (LMBRD1). This has led to a more complete understanding of vitamin metabolism and better approaches to diagnosis and carrier detection for these disorders.
External Website:
External Website Keywords:
Vitamin B12, Cobalamin, Folate, Homocysteine, Methylmalonic acid, Inborn errors of metabolism
Location:
Montreal General Hospital Publications:
Lerner-Ellis JP, Tirone JC, Pawelek PD, Dore C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hossack AR, Dunbar GV, Antonicka H, Forgetta V, Fobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet 38(1): 93-100, 2006. Erratum. Nat Genet 38(8): 957, 2006
Coelho D, Suormala T, Stucki M, Lerner-Ellis J, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B. Gene identification and mutations of the cblD defect of vitamin B12 metabolism: one gene three phenotypes. N Engl J Med 358(4): 1454-1464, 2008
Rutsch F, Gailus S, Miousse IR, Suormala T, Sagné, Toliat MR, Nurnberg G, Wittkampf T, Buers I, Shariffi A, Stucki M, Becker C, Baumgartner M, Robenek H, Marquardt T, Hohne W, Gasnier B, Rosenblatt DS, Fowler B, Nurnberg P. Identification of a putative lysosomal cobalamin exporter mutated in the cblF inborn error of vitamin B12 metabolism. Nat Genet, 41:234-239, 2009
